The MTHFR gene is one of the genes involved in the folate cycle. MTHFR is an enzyme that converts dietary folate or folic acid to the active form so it can be used by your body. Folate, or Vitamin B9, is essential for several important bodily functions from DNA repair and methylation; to keeping our nervous systems healthy. Folate deficiency can lead to increased homocysteine levels in the blood which can be an indicator of certain health issues. This variation of the gene influences how efficiently folate is processed through alterations in the enzyme activity.


Global population distribution:

Source: 1000 Genome Project. Global averages for both sexes

MTHFR: AA

57%

MTHFR: CA

36%

MTHFR: CC

7%

More about MTHFR

So are the two MTHFR gene variants the same?

Two variants of the MTHFR gene are tested for by FitnessGenes – rs1801131 and rs1801133 (which we call MTHFR_SNP2). It is the latter, rs1801133 (MTHFR_SNP2), which has been more conclusively shown to impact upon MTHFR enzyme activity - therefore regulating how efficiently the folate cycle runs. It currently holds more clinical significance in the research compared to rs1801131. The combined effect of holding the risk allele for both these variants is even lower enzyme activity.

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